Hereditary spastic paraplegia with recessive trait caused by mutation in KLC4 gene

BAYRAKLI F., POYRAZOĞLU H. G., Yuksel S., Yakicier C., Erguner B., Sagiroglu M. S., ...Daha Fazla

JOURNAL OF HUMAN GENETICS, cilt.60, sa.12, ss.763-768, 2015 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 60 Sayı: 12
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1038/jhg.2015.109
  • Dergi Adı: JOURNAL OF HUMAN GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.763-768
  • Marmara Üniversitesi Adresli: Evet

Özet

We report an association between a new causative gene and spastic paraplegia, which is a genetically heterogeneous disorder. Clinical phenotyping of one consanguineous family followed by combined homozygosity mapping and whole-exome sequencing analysis. Three patients from the same family shared common features of progressive complicated spastic paraplegia. They shared a single homozygous stretch area on chromosome 6. Whole-exome sequencing revealed a homozygous mutation (c.853_871del19) in the gene coding the kinesin light chain 4 protein (KLC4). Meanwhile, the unaffected parents and two siblings were heterozygous and one sibling was homozygous wild type. The 19 bp deletion in exon 6 generates a stop codon and thus a truncated messenger RNA and protein. The association of a KLC4 mutation with spastic paraplegia identifies a new locus for the disease.